{"id":"http://purl.bioontology.org/ontology/OMIM/619735","synonym":["SPG86"],"notation":"619735","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C5676910"],"prefLabel":"SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE","label":[],"definition":[],"obsolete":false,"prefixIRI":null,"subClassOf":[],"xref":null,"inScheme":[],"created":null,"modified":null,"memberOf":[],"altLabelXl":[],"hiddenLabelXl":[],"parents":[],"prefLabelXl":[],"isInActiveScheme":[null],"isInActiveCollection":[],"properties":{"http://www.w3.org/2004/02/skos/core#altLabel":["SPG86"],"http://purl.bioontology.org/ontology/OMIM/GENESYMBOL":["D6S82E","BAT5","SPG86","ABHD16A"],"http://purl.bioontology.org/ontology/OMIM/SOS":["Caused by mutation in the abhydrolase domain-containing protein 16A, phospholipase gene (ABHD16A, 142620.0001) [MOLECULAR BASIS]","Onset in infancy or early childhood [MISCELLANEOUS]","Progressive disorder [MISCELLANEOUS]"],"http://www.w3.org/1999/02/22-rdf-syntax-ns#type":["http://www.w3.org/2002/07/owl#Class"],"http://purl.bioontology.org/ontology/OMIM/has_manifestation":["http://purl.bioontology.org/ontology/OMIM/MTHU004160","http://purl.bioontology.org/ontology/OMIM/MTHU000474","http://purl.bioontology.org/ontology/OMIM/MTHU005726","http://purl.bioontology.org/ontology/OMIM/MTHU004435","http://purl.bioontology.org/ontology/OMIM/MTHU001017","http://purl.bioontology.org/ontology/OMIM/MTHU075197","http://purl.bioontology.org/ontology/OMIM/MTHU051790","http://purl.bioontology.org/ontology/OMIM/MTHU004092","http://purl.bioontology.org/ontology/OMIM/MTHU075194","http://purl.bioontology.org/ontology/OMIM/MTHU002677","http://purl.bioontology.org/ontology/OMIM/MTHU008495","http://purl.bioontology.org/ontology/OMIM/MTHU061712","http://purl.bioontology.org/ontology/OMIM/MTHU030536","http://purl.bioontology.org/ontology/OMIM/MTHU036357","http://purl.bioontology.org/ontology/OMIM/MTHU006299","http://purl.bioontology.org/ontology/OMIM/MTHU075195","http://purl.bioontology.org/ontology/OMIM/MTHU069522","http://purl.bioontology.org/ontology/OMIM/MTHU006808","http://purl.bioontology.org/ontology/OMIM/MTHU003762","http://purl.bioontology.org/ontology/OMIM/MTHU004882","http://purl.bioontology.org/ontology/OMIM/MTHU075196","http://purl.bioontology.org/ontology/OMIM/MTHU007616","http://purl.bioontology.org/ontology/OMIM/MTHU002108","http://purl.bioontology.org/ontology/OMIM/MTHU000036","http://purl.bioontology.org/ontology/OMIM/MTHU000870","http://purl.bioontology.org/ontology/OMIM/MTHU000554","http://purl.bioontology.org/ontology/OMIM/MTHU002170","http://purl.bioontology.org/ontology/OMIM/MTHU012071","http://purl.bioontology.org/ontology/OMIM/MTHU062508","http://purl.bioontology.org/ontology/OMIM/MTHU012450","http://purl.bioontology.org/ontology/OMIM/MTHU072286","http://purl.bioontology.org/ontology/OMIM/MTHU036678","http://purl.bioontology.org/ontology/OMIM/MTHU051708","http://purl.bioontology.org/ontology/OMIM/MTHU037057","http://purl.bioontology.org/ontology/OMIM/MTHU005783","http://purl.bioontology.org/ontology/OMIM/MTHU015980","http://purl.bioontology.org/ontology/OMIM/MTHU000140","http://purl.bioontology.org/ontology/OMIM/MTHU022723","http://purl.bioontology.org/ontology/OMIM/MTHU000242","http://purl.bioontology.org/ontology/OMIM/MTHU002752"],"http://bioportal.bioontology.org/ontologies/umls/tui":["T047"],"http://purl.bioontology.org/ontology/OMIM/GENELOCUS":["6p21.3"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEMEANING":["Phenotype description, molecular basis known."],"http://www.w3.org/2004/02/skos/core#notation":["619735"],"http://bioportal.bioontology.org/ontologies/umls/hasSTY":["http://purl.bioontology.org/ontology/STY/T047"],"http://purl.bioontology.org/ontology/OMIM/has_inheritance_type":["http://purl.bioontology.org/ontology/OMIM/MTHU000016"],"http://bioportal.bioontology.org/ontologies/umls/cui":["C5676910"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPE":["3"],"http://www.w3.org/2004/02/skos/core#prefLabel":["SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE"],"http://purl.bioontology.org/ontology/OMIM/MIMTYPEVALUE":["pound"]},"@id":"http://purl.bioontology.org/ontology/OMIM/619735","@type":"http://www.w3.org/2002/07/owl#Class","links":{"self":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735","ontology":"https://data.bioontology.org/ontologies/OMIM","children":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735/children","parents":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735/parents","descendants":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735/descendants","ancestors":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735/ancestors","instances":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735/instances","tree":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735/tree","notes":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735/notes","mappings":"https://data.bioontology.org/ontologies/OMIM/classes/http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735/mappings","ui":"http://bioportal.bioontology.org/ontologies/OMIM?p=classes&conceptid=http%3A%2F%2Fpurl.bioontology.org%2Fontology%2FOMIM%2F619735","@context":{"self":"http://www.w3.org/2002/07/owl#Class","ontology":"http://data.bioontology.org/metadata/Ontology","children":"http://www.w3.org/2002/07/owl#Class","parents":"http://www.w3.org/2002/07/owl#Class","descendants":"http://www.w3.org/2002/07/owl#Class","ancestors":"http://www.w3.org/2002/07/owl#Class","instances":"http://data.bioontology.org/metadata/Instance","tree":"http://www.w3.org/2002/07/owl#Class","notes":"http://data.bioontology.org/metadata/Note","mappings":"http://data.bioontology.org/metadata/Mapping","ui":"http://www.w3.org/2002/07/owl#Class"}},"@context":{"@vocab":"http://data.bioontology.org/metadata/","label":"http://www.w3.org/2000/01/rdf-schema#label","prefLabel":"http://www.w3.org/2004/02/skos/core#prefLabel","prefLabelXl":"http://www.w3.org/2008/05/skos-xl#prefLabel","altLabelXl":"http://www.w3.org/2008/05/skos-xl#altLabel","hiddenLabelXl":"http://www.w3.org/2008/05/skos-xl#hiddenLabel","synonym":"http://www.w3.org/2004/02/skos/core#altLabel","definition":"http://www.w3.org/2004/02/skos/core#definition","obsolete":"http://www.w3.org/2002/07/owl#deprecated","notation":"http://www.w3.org/2004/02/skos/core#notation","prefixIRI":"http://data.bioontology.org/metadata/prefixIRI","parents":"http://www.w3.org/2000/01/rdf-schema##<Proc:0x00007f9470058690 /opt/ontoportal/ontologies_api/shared/bundle/ruby/3.2.0/bundler/gems/ontologies_linked_data-0083660248b7/lib/ontologies_linked_data/models/class.rb:67 (lambda)>","subClassOf":"http://www.w3.org/2000/01/rdf-schema#subClassOf","semanticType":"http://bioportal.bioontology.org/ontologies/umls/hasSTY","cui":"http://bioportal.bioontology.org/ontologies/umls/cui","xref":"http://www.geneontology.org/formats/oboInOwl#hasDbXref","inScheme":"http://www.w3.org/2004/02/skos/core#inScheme","created":"http://purl.org/dc/terms/created","modified":"http://purl.org/dc/terms/modified","@language":[]}}